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rs121909036

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs121909036(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611635
GeneCFTR
is asnp
is mentioned by
dbSNPrs121909036
ebirs121909036
HLIrs121909036
Exacrs121909036
Varsomers121909036
Maprs121909036
PheGenIrs121909036
hapmaprs121909036
1000 genomesrs121909036
hgdprs121909036
ensemblrs121909036
gopubmedrs121909036
geneviewrs121909036
scholarrs121909036
googlers121909036
pharmgkbrs121909036
gwascentralrs121909036
openSNPrs121909036
23andMers121909036
23andMe allrs121909036
SNP Nexus

SNPshotrs121909036
SNPdbers121909036
MSV3drs121909036
GWAS Ctlgrs121909036
Max Magnitude3

Cystic fibrosis; c.3194T>C, p.Leu1065Pro

named i5011813 by 23andMe

OMIM602421
Desc
Variant0103
Relatedalso
ClinVar
Risk rs121909036(C,G;C,G)
Alt rs121909036(C,G;C,G)
Reference rs121909036(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251689T>C; NC_000007.13:g.117251689T>G
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007629.5, RCV000046812.2,